List of variants in gene NEB reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.12018+1G>A	rs762278237	0.00003
NM_001164508.2(NEB):c.1152+1G>A	rs398124167	0.00001
NM_001164508.2(NEB):c.294+2T>C	rs773952935	0.00001
NM_001164508.2(NEB):c.11184del (p.Lys3728fs)	rs1553901624
NM_001164508.2(NEB):c.12221dup (p.Thr4075fs)	rs1553883480
NM_001164508.2(NEB):c.1570-2A>G	rs1553603958
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs)	rs886043631
NM_001164508.2(NEB):c.17557_17558del (p.Glu5853fs)	rs886044005
NM_001164508.2(NEB):c.18862_18872del (p.Val6288fs)	rs886042141
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)	rs80344795
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)	rs398124172

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